Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARHGEF2_chr1_155941854_155983547	155954589	A A	ATCTACTT others(313): Show ATCTACTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAATCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGT AGCTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCAATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	284	0.0035	320	c.178 others(337): Show c.1783+312_1783+313insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT TGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGG AGACTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAGTAGA	ARHGEF2	ENSG00000116584.22	transcript	ENST00000361247.9	protein_coding	14/21			chr1	TogoVar
ARHGEF2_chr1_155941854_155983547	155954589	A A	ATCTACTT others(313): Show ATCTACTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAATCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGT AGCTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	284	0.0035	320	c.178 others(337): Show c.1783+312_1783+313insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGG AGACTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAGTAGA	ARHGEF2	ENSG00000116584.22	transcript	ENST00000361247.9	protein_coding	14/21			chr1	TogoVar
ARHGEF2_chr1_155941854_155983547	155954589	A A	ATCTACTT others(313): Show ATCTACTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCAATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0113 a0001c0007t0001g0113	1	284	0.0035	320	c.178 others(337): Show c.1783+312_1783+313insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT TGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAGTAGA	ARHGEF2	ENSG00000116584.22	transcript	ENST00000361247.9	protein_coding	14/21			chr1	TogoVar
ARHGEF2_chr1_155941854_155983547	155954589	A A	ATCTACTT others(313): Show ATCTACTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGT AGCTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCAATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(176): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(137): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0003g0070 a0001c0001t0004g0142 a0001c0001t0005g0075 a0001c0001t0006g0106 a0001c0001t0007g0076 a0003c0004t0001g0067 a0003c0004t0001g0069 a0003c0004t0001g0073 a0004c0005t0001g0157	179	284	0.6303	320	c.178 others(337): Show c.1783+312_1783+313insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT TGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGG AGACTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAGTAGA	ARHGEF2	ENSG00000116584.22	transcript	ENST00000361247.9	protein_coding	14/21			chr1	TogoVar
ARHGEF2_chr1_155941854_155983547	155954589	A A	ATCTACTT others(313): Show ATCTACTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGT AGCTGGGACTACAGGCGCCCACCACCGTGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCAATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	284	0.0035	320	c.178 others(337): Show c.1783+312_1783+313insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT TGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCACGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGG AGACTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAGTAGA	ARHGEF2	ENSG00000116584.22	transcript	ENST00000361247.9	protein_coding	14/21			chr1	TogoVar
ARHGEF2_chr1_155941854_155983547	155954589	A A	ATCTACTT others(313): Show ATCTACTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCAATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	284	0.0035	320	c.178 others(337): Show c.1783+312_1783+313insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT TGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGACTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAGTAGA	ARHGEF2	ENSG00000116584.22	transcript	ENST00000361247.9	protein_coding	14/21			chr1	TogoVar
ARHGEF2_chr1_155941854_155983547	155954589	A A	ATCTACTT others(313): Show ATCTACTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGT AGCTGGGACTACAGGTGCCCACCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCAATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	284	0.0035	320	c.178 others(337): Show c.1783+312_1783+313insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT TGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGG AGACTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAGTAGA	ARHGEF2	ENSG00000116584.22	transcript	ENST00000361247.9	protein_coding	14/21			chr1	TogoVar
ARHGEF38_chr4_105547620_105685914	105629589	T T	TCAAATCT others(313): Show TCAAATCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCCTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	186	0.0054	320	c.509 others(337): Show c.509-1292_509-1291insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCCTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAAATCTGCAATGTTTT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105629589	T T	TCAAATCT others(313): Show TCAAATCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCCTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	186	0.0054	320	c.509 others(337): Show c.509-1292_509-1291insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCCTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAAATCTGCAATGTTTT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105629589	T T	TCAAATCT others(313): Show TCAAATCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCCTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG01069.hp1 others(39): Show HG00408.hp2 HG00609.hp2 HG01069.hp1 HG01106.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG02040.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG06807.hp1 NA18522.hp2 NA18942.hp2 NA18959.hp1 NA18962.hp1 NA19011.hp2 NA19072.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0018 others(1): Show a0001c0002 a0001c0003 a0001c0018 a0005c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0001c0003t0011 a0001c0018t0006 a0005c0008t0001	a0001c0002t0001g0067 a0001c0002t0001g0080 a0001c0002t0001g0166 others(38): Show a0001c0002t0001g0067 a0001c0002t0001g0080 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0171 a0001c0002t0002g0001 a0001c0002t0002g0047 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0078 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0149 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0168 a0001c0002t0002g0175 a0001c0002t0002g0179 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0090 a0001c0002t0003g0096 a0001c0002t0003g0099 a0001c0002t0003g0101 a0001c0002t0003g0142 a0001c0002t0003g0150 a0001c0002t0007g0147 a0001c0002t0007g0148 a0001c0002t0011g0091 a0001c0003t0003g0020 a0001c0003t0003g0024 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0007g0027 a0001c0003t0008g0031 a0001c0003t0011g0030 a0001c0018t0006g0026 a0005c0008t0001g0151	42	186	0.2258	320	c.509 others(337): Show c.509-1292_509-1291insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCCTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAAATCTGCAATGTTTT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARID1B_chr6_156772378_157215779	157147695	T T	TCCCTCAC others(313): Show TCCCTCACCCCCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCC GGCCCTGACCTCCGTCCCTCACCCCCGCCTCCGACCCTGACCTCCGTCCC TCACCTCCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCC CTGACCTCCGTCCCTCACCTCCGCCTCCGACCCTGCCCGCCAGCCCTCAC CCCCTTCTCCGACCCTGCCCTCCGTCCCTCACCTCCGCCTCCGACCCTGC CCGCCCGCCCTCACCCTCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCC GCCTCCGACCCTGCCCGCCAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01433.hp1 HG01346.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0109 a0001c0001t0001g0075 a0001c0001t0001g0109	2	150	0.0133	320	c.276 others(337): Show c.2762-905_2762-904insACCTCCGTCCCTCACCCCCGCCTCCGGC CCTGACCTCCGTCCCTCACCCCCGCCTCCGACCCTGACCTCCGTCCCTCA CCTCCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTG ACCTCCGTCCCTCACCTCCGCCTCCGACCCTGCCCGCCAGCCCTCACCCC CTTCTCCGACCCTGCCCTCCGTCCCTCACCTCCGCCTCCGACCCTGCCCG CCCGCCCTCACCCTCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCC TCCGACCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTG	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(313): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCACTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTC CCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC TCTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	264	0.0038	320	c.102 others(337): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCACTCCCACTCCCGCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCC CCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCC CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(313): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTC CCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC TCTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18962.hp1 HG03688.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0254 a0001c0001t0001g0201 a0001c0001t0001g0254	2	264	0.0076	320	c.102 others(337): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCC CCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCC CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(313): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTC CCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC TCTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	264	0.0038	320	c.102 others(337): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCC CCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCC CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARMC8_chr3_138182301_138303373	138272408	T T	TAAGACAT others(313): Show TAAGACATTCAAGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCACTCCCACCTGGGCCACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	246	0.0041	320	c.148 others(337): Show c.1480-548_1480-547insGGCCGGGCGCGGTGGCTCACGCTTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTCCCACCTGGGCCACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACATTCAA	ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMT1_chr6_151447466_151475101	151455646	T T	TCACGCCT others(313): Show TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGCGGATCACCT GAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACCCTATCGC TACTAAAAATACAAAATTAGCCAGGTGTGGTGGCACATGCCAGCTACTTG GGAGGCTAAGGCACGAGAACTGCATGAACCCAGGAGGTGGAGGTTGCGGT GACCCGAGATCGCACCATTGCATCCAGCCTGGGCAACAAGAGCAAAACTC AGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	418	0.0024	320	c.147 others(335): Show c.147+993_147+994insCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAAGCGGGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAA CATGGAGAAACCCTATCGCTACTAAAAATACAAAATTAGCCAGGTGTGGT GGCACATGCCAGCTACTTGGGAGGCTAAGGCACGAGAACTGCATGAACCC AGGAGGTGGAGGTTGCGGTGACCCGAGATCGCACCATTGCATCCAGCCTG GGCAACAAGAGCAAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATATATATATATATATATATATATATATATATA	ARMT1	ENSG00000146476.11	transcript	ENST00000367294.4	protein_coding	2/4			chr6	TogoVar
ARSB_chr5_78772209_78990310	78957921	T T	TAAAAATC others(313): Show TAAAAATCGGAAGTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAAGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGG TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18962.hp1 NA19010.hp1 NA18947.hp1 NA18962.hp1 NA19010.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049	3	360	0.0083	320	c.691 others(337): Show c.691-2420_691-2419insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCTTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGACTTCCGATTTTT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	3/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78957921	T T	TAAAAATC others(313): Show TAAAAATCGGAAGTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGG TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp2 HG01261.hp2 others(8): Show HG01069.hp1 HG01167.hp2 HG01261.hp2 HG01346.hp1 HG02071.hp1 HG02074.hp1 HG02155.hp1 HG03540.hp2 HG04204.hp2 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0059 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0059 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0025 a0001c0003t0046 a0001c0007t0004	a0001c0001t0001g0265 a0001c0001t0001g0321 a0001c0001t0005g0195 others(8): Show a0001c0001t0001g0265 a0001c0001t0001g0321 a0001c0001t0005g0195 a0001c0001t0005g0208 a0001c0001t0059g0332 a0001c0003t0001g0344 a0001c0003t0002g0320 a0001c0003t0003g0334 a0001c0003t0025g0341 a0001c0003t0046g0343 a0001c0007t0004g0100	11	360	0.0306	320	c.691 others(337): Show c.691-2420_691-2419insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGACTTCCGATTTTT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	3/7			chr5	TogoVar
ASB7_chr15_100597589_100656701	100637955	C C	CTTTTTTT others(313): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCCCCGCGCCCGGCCTCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	368	0.0027	320	c.817 others(337): Show c.817+7926_817+7927insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCCCCGCGCCCGGCCTCTTTTTTTTTTTTTT	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASTN2_chr9_116418112_117420057	116734543	T T	TAAAGACA others(313): Show TAAAGACATGAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp2 HG03239.hp1 others(1): Show HG02698.hp2 HG03017.hp2 HG03239.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0023 a0001c0001 a0001c0002 a0001c0023	a0001c0001t0008 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0008 a0001c0002t0002 a0001c0002t0008 a0001c0023t0002	a0001c0001t0008g0065 a0001c0002t0002g0059 a0001c0002t0008g0024 others(1): Show a0001c0001t0008g0065 a0001c0002t0002g0059 a0001c0002t0008g0024 a0001c0023t0002g0069	4	102	0.0392	320	c.239 others(339): Show c.2397-1021_2397-1020insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAATTCATGTCTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(313): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATGAATA TATATATCATATATGATATATATGAATATATATATCATATATTATATATG ATATATATATCATATATTATATATGATATATATATCATATATGATATATA TGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0160 a0002c0001t0006g0160	1	356	0.0028	320	c.924 others(337): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATATCATATATAATATATGATATATATATCATATAT AATATATGATATATATATTCATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATTCATATATATCATATATGAT ATATATATTCATATATATCATATATGATATATATATTCATATATATCATA TATGATATATATATTCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(313): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGATATATATAT CATATATTATATATGATATATATATCATATATGATATATATGAATATATA TATCATATATGATATATATGAATATATATCATATATGATATATATGAATA TATATATCATATATGATATATATATTCATATATATCATATATGATATATA TGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01928.hp2 HG01981.hp2 others(1): Show HG01346.hp2 HG01928.hp2 HG01981.hp2 NA19057.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0003 a0002c0001t0002 a0002c0001t0003	a0002c0001t0002g0142 a0002c0001t0002g0143 a0002c0001t0002g0155 others(1): Show a0002c0001t0002g0142 a0002c0001t0002g0143 a0002c0001t0002g0155 a0002c0001t0003g0123	4	356	0.0112	320	c.924 others(337): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATTCATATATATCATATATGATATATATAT TCATATATATCATATATGATATATATATCATATATAATATATGATATATA TATCATATATATCATATATGATATATATATTCATATATATCATATATGAT ATATATATTCATATATATCATATATGATATATATATTCATATATATCATA TATGATATATATATTCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP10A_chr15_25673712_25868327	25758169	A A	ACTCATTC others(313): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTC ATTCCGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0001 a0013c0010t0001	a0013c0010t0001g0178 a0013c0010t0001g0178	1	300	0.0033	320	c.655 others(339): Show c.655-22029_655-22028insGGTGGAGCAGGTGGTCGGAATGAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758544	C C	CCACCTGC others(313): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCA CCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0102 a0003c0003t0001g0102	1	300	0.0033	320	c.655 others(339): Show c.655-22404_655-22403insATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTA GGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758561	A A	ACTCATTC others(313): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0026 a0007c0015t0001g0026	1	300	0.0033	320	c.655 others(339): Show c.655-22421_655-22420insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(313): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATATATATAAAT ATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATACGT ATATACATATATAAATATATGTTGTATATACGTATATACATATATAAATA TATGTTGTATATACGTATATACTATATATGTTGTATATACGTATATACAA CATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTAT ATACGTATATAGAACATAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 HG02895.hp2 HG03130.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0017 a0005c0012t0017	a0005c0012t0017g0186 a0005c0012t0017g0196 a0005c0012t0017g0186 a0005c0012t0017g0196	2	236	0.0085	320	c.676 others(337): Show c.676-4666_676-4665insATTTATGTTCTATATACGTATATACAAC ATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATA TACGTATATACAACATATATAGTATATACGTATATACAACATATATTTAT ATATGTATATACGTATATACAACATATATTTATATATGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATATATACGTATATACAACATATATTTATATATGTATATACGTATATAC AACATATATTTATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10D_chr4_47480275_47598486	47494500	T T	TAAAGTTA others(313): Show TAAAGTTAGATTATCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGC GGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03239.hp1 NA19077.hp1 HG02258.hp2 HG03239.hp1 NA19077.hp1	a0002 a0009 a0011 a0002 a0009 a0011	a0002c0002 a0009c0011 a0011c0038 a0002c0002 a0009c0011 a0011c0038	a0002c0002t0001 a0009c0011t0016 a0011c0038t0005 a0002c0002t0001 a0009c0011t0016 a0011c0038t0005	a0002c0002t0001g0033 a0009c0011t0016g0062 a0011c0038t0005g0068 a0002c0002t0001g0033 a0009c0011t0016g0062 a0011c0038t0005g0068	3	332	0.0090	320	c.-38 others(337): Show c.-38+8993_-38+8994insTCACGCCTGTAGTCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTA ACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAGATTA	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(313): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCC ACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCC CACCTCCCCCCACCCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0135 a0001c0006t0001g0135	1	254	0.0039	320	c.39+ others(337): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCAC CTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCC CACCCCCCACCTCCCCCCACCCCCCCACCCCCTACCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(313): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCC CACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCC CCACCTCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19011.hp2 HG02015.hp1 NA19011.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0008 a0001c0004 a0003c0008	a0001c0004t0002 a0003c0008t0011 a0001c0004t0002 a0003c0008t0011	a0001c0004t0002g0208 a0003c0008t0011g0020 a0001c0004t0002g0208 a0003c0008t0011g0020	2	254	0.0079	320	c.39+ others(337): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCA CCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCC CCACCCCCCACCTCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP1A4_chr1_160146603_160191980	160178089	G G	GCTCACGC others(313): Show GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCAC TTGAGGTTGGGAGTTGAGACCATCCTGGCCAACATGGAGATACCCCGTCT CTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCC CAACCACTCGGGAGGCTGAGTCAGGAGAATCACTTGAACCCGGGGGGCAA AGTTTGCAGTGAGCCAAGATCACGCCATTGCACTGCAGCCTGGGCAACAA GAGTAAAACTCTGTCTCAAAAAATAAATAAATAAATAAATATAAAATTTG AAAACCAGCTGGGCACAGTGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0037 a0001c0005t0001g0037	1	418	0.0024	320	c.273 others(337): Show c.2736+458_2736+777dupCGAAGTGGGCGGATCACTTGAGGTTGGG AGTTGAGACCATCCTGGCCAACATGGAGATACCCCGTCTCTACTAAAAAT ACAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAACCACTCGG GAGGCTGAGTCAGGAGAATCACTTGAACCCGGGGGGCAAAGTTTGCAGTG AGCCAAGATCACGCCATTGCACTGCAGCCTGGGCAACAAGAGTAAAACTC TGTCTCAAAAAATAAATAAATAAATAAATATAAAATTTGAAAACCAGCTG GGCACAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGC	ATP1A4	ENSG00000132681.17	transcript	ENST00000368081.9	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP5PB_chr1_111444464_111467773	111458633	T T	TAAGAACT others(313): Show TAAGAACTTTGACTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02622.hp2 others(7): Show HG01891.hp1 HG02258.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02965.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0012 a0001c0001t0005g0043 a0001c0001t0005g0114 others(2): Show a0001c0001t0005g0012 a0001c0001t0005g0043 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0017g0043	10	434	0.0230	320	c.514 others(335): Show c.514-808_514-807insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAGAACTTTGACTTGG	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP8B1_chr18_57641426_57808315	57678908	A A	AAAAAAAA others(313): Show AAAAAAAAAAAAAGAAGAGAAAAGAAAAGAGTGTGGTGTTGATGGTATAG TGGTGAGCATAGCTGCCTTCCAAGCAATTGACCCGACTTCGATTCCCAGC CAATGCAGCAGGCTGACCTTTTGTCCTGGCTAACATGGTGAAACCCTGTC TCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCATAAACCCGGGA GGCAGAGGTTGCAGTGAACCGAGATCACACCATTGCACTCCAGCCCAGGC GATAGTTCGAGATTCTATCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02922.hp1 others(7): Show HG02257.hp2 HG02630.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 others(2): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0001t0028 a0001c0001t0040	a0001c0001t0007g0212 a0001c0001t0007g0247 a0001c0001t0007g0252 others(7): Show a0001c0001t0007g0212 a0001c0001t0007g0247 a0001c0001t0007g0252 a0001c0001t0007g0280 a0001c0001t0008g0102 a0001c0001t0020g0165 a0001c0001t0020g0171 a0001c0001t0020g0193 a0001c0001t0028g0304 a0001c0001t0040g0148	10	314	0.0319	320	c.163 others(339): Show c.1631-3887_1631-3886insGAGATAGAATCTCGAACTATCGCCTG GGCTGGAGTGCAATGGTGTGATCTCGGTTCACTGCAACCTCTGCCTCCCG GGTTTATGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CACCCGCCACCATGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACAG GGTTTCACCATGTTAGCCAGGACAAAAGGTCAGCCTGCTGCATTGGCTGG GAATCGAAGTCGGGTCAATTGCTTGGAAGGCAGCTATGCTCACCACTATA CCATCAACACCACACTCTTTTCTTTTCTCTTCTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115933042	G G	GAGAGAGA others(313): Show GAGAGAGATCAGAACTCATATGAAAGGTGAACAGATTCTTCCCTTTGGCA AGCAATTCCTTCAGGAACTGAGTTATGCTTATGGTGGGACTTCCAATTAG AAAAGTAAATTTTAAAACAAACAAACAACCAGGCTGTTCAGAGATTGCTA GACACAAGATCAAGTCCCAGCCAGGTGTTTGACATTGCCCAGTCTCTTTA CTCTTGTAATGTGAAACTTAGAGTCAGCTTCTTCACTAGTGTTTTTGGCA TCATAGAAACCACACACCTAACCATAAATACAAACCATAGCTGGTACTAC CAGTGCAGTTCTCACTCTTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01109.hp2 others(23): Show HG00639.hp2 HG00738.hp2 HG01109.hp2 HG01891.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 NA18906.hp2 NA18994.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0015 a0002c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(21): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0042 a0001c0001t0043 a0001c0002t0006 a0001c0003t0001 a0001c0003t0003 a0001c0003t0014 a0001c0003t0037 a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0001c0010t0006 a0001c0015t0034 a0002c0004t0006 a0002c0004t0007	a0001c0001t0003g0061 a0001c0001t0006g0109 a0001c0001t0007g0027 others(23): Show a0001c0001t0003g0061 a0001c0001t0006g0109 a0001c0001t0007g0027 a0001c0001t0014g0001 a0001c0001t0019g0020 a0001c0001t0020g0115 a0001c0001t0022g0032 a0001c0001t0023g0022 a0001c0001t0024g0024 a0001c0001t0042g0095 a0001c0001t0043g0094 a0001c0002t0006g0062 a0001c0003t0001g0083 a0001c0003t0003g0060 a0001c0003t0014g0089 a0001c0003t0037g0121 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0010t0006g0087 a0001c0015t0034g0110 a0002c0004t0006g0084 a0002c0004t0007g0011	26	128	0.2031	320	c.401 others(341): Show c.4019-11612_4019-11293dupGAGATCAGAACTCATATGAAAGGT GAACAGATTCTTCCCTTTGGCAAGCAATTCCTTCAGGAACTGAGTTATGC TTATGGTGGGACTTCCAATTAGAAAAGTAAATTTTAAAACAAACAAACAA CCAGGCTGTTCAGAGATTGCTAGACACAAGATCAAGTCCCAGCCAGGTGT TTGACATTGCCCAGTCTCTTTACTCTTGTAATGTGAAACTTAGAGTCAGC TTCTTCACTAGTGTTTTTGGCATCATAGAAACCACACACCTAACCATAAA TACAAACCATAGCTGGTACTACCAGTGCAGTTCTCACTCTTGTAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115933042	G G	GAGAGAGA others(313): Show GAGAGAGATCAGAACTCATATGAAAGGTGAACAGATTCTTCCTTTTGGCA AGCAATTCCTTCAGGAACTGAGTTATGCTTATGGTGGGACTTCCAATTAG AAAAGTAAATTTTAAAACAAACAAACAACCAGGCTGTTCAGAGATTGCTA GACACAAGATCAAGTCCCAGCCAGGTGTTTGACATTGCCCAGTCTCTTTA CTCTTGTAATGTGAAACTTAGAGTCAGCTTCTTCACTAGTGTTTTTGGCA TCATAGAAACCACACACCTAACCATAAATACAAACCATAGCTGGTACTAC CAGTGCAGTTCTCACTCTTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02145.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0015 a0001c0001t0013g0019 a0001c0001t0002g0015 a0001c0001t0013g0019	2	128	0.0156	320	c.401 others(341): Show c.4019-11575_4019-11574insTTTTGGCAAGCAATTCCTTCAGGA ACTGAGTTATGCTTATGGTGGGACTTCCAATTAGAAAAGTAAATTTTAAA ACAAACAAACAACCAGGCTGTTCAGAGATTGCTAGACACAAGATCAAGTC CCAGCCAGGTGTTTGACATTGCCCAGTCTCTTTACTCTTGTAATGTGAAA CTTAGAGTCAGCTTCTTCACTAGTGTTTTTGGCATCATAGAAACCACACA CCTAACCATAAATACAAACCATAGCTGGTACTACCAGTGCAGTTCTCACT CTTGTAGAGAGATCAGAACTCATATGAAAGGTGAACAGATTCTTCC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
B3GALT1_chr2_167288001_167879045	167541001	T T	TTAAAATG others(313): Show TTAAAATGGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	118	0.0085	320	c.-41 others(341): Show c.-410+50740_-410+50741insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGTAAAATGGAATTTTTT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167851332	T T	TAAAAAGC others(313): Show TAAAAAGCAAAAAACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAACAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0109 a0001c0001t0041g0109	1	118	0.0085	320	c.-22 others(341): Show c.-229-17463_-229-17462insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCA GTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTC CGTCTCAAAAAAAAAAACAAAAAAAAAAAAAAAAAGCAAAAAACAC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B4GALNT3_chr12_454939_568509	511645	T T	TCCACCTT others(313): Show TCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTT CCACCTTCCACCTTCCGCCTTCCACCTTCTTCCACCTTCGACCTTCTTCC ACCTTCGACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCA CCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCTTCCGCCTTC CACCTTCTTCCACCTTCGACCTTCTTCCACCTTCCACCTTCTTCCACCTT CGAGCTTCCACCTTCCGCCTTCCGCCTTCCACCTTCCACCTTCCACCTTC CACCTTCCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0348 a0002c0003t0004g0348	1	394	0.0025	320	c.170 others(339): Show c.170-23520_170-23519insCACCTTCTACCTTCCTTCCACCTTCC ACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCTTCCGCCTTCCACCTT CTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCTTCCACCTTCCACCT TCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTT CCACCTTCCACCTTCCGCCTTCCACCTTCTTCCACCTTCGACCTTCTTCC ACCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCCGCCTT CCACCTTCCACCTTCCACCTTCCACCTTCCTTCCACCTTCCACC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	529677	C C	CTCGGTAA others(313): Show CTCGGTAAAGGTGAGCTGCTATGAATATTGCCATTATTACAACTACTTAG GAGCAAAAGCAATACATCCTGCCGTGTACCTTCGGTAAAGGTGAGCTGCT ATGAATATTGCCATTATTACAACTACTTAGGAGCAAAAGCAATACATCCT GCCGTGTACCTTCGGTAAAGGTGAGCTGCTATGAATATTGCCATTATTAC AACTACTTAGGAGCAAAAGCAATACATCCTGCCGTGTACCTTCGGTAAAG GTGAGCTGCTATGAATATTGCCATTATTACAACTACTTAGGAGCAAAAGC AATACATCCTGCCGTGTACCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp1 HG00639.hp2 HG01069.hp2 HG01071.hp1	a0006 a0008 a0006 a0008	a0006c0007 a0008c0012 a0006c0007 a0008c0012	a0006c0007t0001 a0008c0012t0010 a0006c0007t0001 a0008c0012t0010	a0006c0007t0001g0005 a0008c0012t0010g0321 a0008c0012t0010g0322 a0006c0007t0001g0005 a0008c0012t0010g0321 a0008c0012t0010g0322	3	394	0.0076	320	c.170 others(337): Show c.170-5431_170-5112dupGCAATACATCCTGCCGTGTACCTTCGGT AAAGGTGAGCTGCTATGAATATTGCCATTATTACAACTACTTAGGAGCAA AAGCAATACATCCTGCCGTGTACCTTCGGTAAAGGTGAGCTGCTATGAAT ATTGCCATTATTACAACTACTTAGGAGCAAAAGCAATACATCCTGCCGTG TACCTTCGGTAAAGGTGAGCTGCTATGAATATTGCCATTATTACAACTAC TTAGGAGCAAAAGCAATACATCCTGCCGTGTACCTTCGGTAAAGGTGAGC TGCTATGAATATTGCCATTATTACAACTACTTAGGAGCAAAA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	381318	G G	GTCCTGAC others(313): Show GTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCG CCCCCGGCCCCGGGTTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCC TGACCACCTCTCCGCCCCCGGCCCCGGGTTCCTGACCACCTCTCCGCCCC CGGCCCCGGGGTCCTGACCACCTCTCCGCCCCCGGCCCCGGGTTCCTGAC CACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCGCCCCCGGC CCCGGGTTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACC TCTCCGCCCCCGGCCCCGGGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	184	0.0054	320	c.299 others(335): Show c.2997-46_2997-45insCCCCCGGCCCCGGGTTCCTGACCACCTCTC CGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCGCCCCCGGCCCCGGGTT CCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCGCC CCCGGCCCCGGGTTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTG ACCACCTCTCCGCCCCCGGCCCCGGGTTCCTGACCACCTCTCCGCCCCCG GCCCCGGGGTCCTGACCACCTCTCCGCCCCCGGCCCCGGGTTCCTGACCA CCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(313): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTG CTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCT GTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGT TGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTG CGTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01515.hp2 HG02280.hp2 others(1): Show HG01257.hp1 HG01515.hp2 HG02280.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0030 a0001c0001t0004g0032 a0001c0001t0004g0051 others(1): Show a0001c0001t0004g0030 a0001c0001t0004g0032 a0001c0001t0004g0051 a0001c0001t0005g0261	4	376	0.0106	320	c.131 others(335): Show c.131-939_131-938insGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGC TGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTG TTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTT GCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGC GTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BBS9_chr7_33124564_33611069	33143869	T T	TGTGTATC others(313): Show TGTGTATCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp1 HG02738.hp2 others(1): Show HG00642.hp2 HG01358.hp1 HG02738.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0025 a0002c0002 a0001c0025 a0002c0002	a0001c0025t0003 a0002c0002t0003 a0002c0002t0004 a0001c0025t0003 a0002c0002t0003 a0002c0002t0004	a0001c0025t0003g0030 a0002c0002t0003g0004 a0002c0002t0003g0031 others(1): Show a0001c0025t0003g0030 a0002c0002t0003g0004 a0002c0002t0003g0031 a0002c0002t0004g0034	4	268	0.0149	320	c.-11 others(337): Show c.-11-2360_-11-2359insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGTGTATCTTCTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33143869	T T	TGTGTATC others(313): Show TGTGTATCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	268	0.0037	320	c.-11 others(337): Show c.-11-2360_-11-2359insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGTGTATCTTCTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(313): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA21309.hp1 NA18956.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0039 a0004c0004t0003 a0002c0002t0039 a0004c0004t0003	a0002c0002t0039g0357 a0004c0004t0003g0135 a0002c0002t0039g0357 a0004c0004t0003g0135	2	364	0.0055	320	c.723 others(337): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTT TTTGCATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60915611	T T	TGGACTTT others(313): Show TGGACTTTTTTTTTTTTTTTTTTTTTTTTTAAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01952.hp2 HG02145.hp2 others(18): Show HG00639.hp1 HG01952.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0008 a0002c0005 others(2): Show a0001c0002 a0001c0008 a0002c0005 a0002c0006 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0001c0008t0002 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0008t0002 a0002c0005t0001 a0002c0006t0002 a0004c0009t0001	a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 others(18): Show a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0002g0001 a0001c0002t0002g0053 a0001c0002t0002g0057 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0008t0002g0062 a0002c0005t0001g0051 a0002c0006t0002g0027 a0004c0009t0001g0055	21	74	0.2838	320	c.993 others(337): Show c.993+4918_993+4919insTTTTTTTTTTTTTTTTTTTTAAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGACTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCR_chr22_23175509_23323037	23255014	G G	GCAAGACC others(313): Show GCAAGACCCTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0139 a0001c0002t0139	a0001c0002t0139g0168 a0001c0002t0139g0168	1	296	0.0034	320	c.146 others(339): Show c.1461+1049_1461+1050insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCAAGACCCTATCTTT	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BHMT_chr5_79106809_79137288	79132972	T T	TCTATCAT others(313): Show TCTATCATTTCTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	432	0.0023	320	c.18 others(331): Show c.1856_*1857insCTATCATTTCTCTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCTCTGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		685		chr5	TogoVar
BICD1_chr12_32101847_32388633	32205715	T T	TTATATGT others(313): Show TTATATGTCAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01517.hp1 HG01069.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0264 a0001c0001t0003g0261 a0001c0001t0001g0264 a0001c0001t0003g0261	2	290	0.0069	320	c.214 others(339): Show c.214-10518_214-10517insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTATATGTCAATTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BLZF1_chr1_169363195_169393305	169369756	T T	TAGGTGAC others(313): Show TAGGTGACTACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 HG02451.hp1 others(6): Show HG01081.hp1 HG02257.hp2 HG02451.hp1 HG02886.hp2 HG03041.hp1 HG03209.hp2 NA18522.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0134 a0001c0001t0005g0028	9	366	0.0246	320	c.28+ others(333): Show c.28+220_28+221insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGGTGACTACTCTT	BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
BNC2_chr9_16404503_16875670	16682301	A A	ACATCATA others(313): Show ACATCATAGGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTGGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAAGCGTGAGCCACCGCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0138 a0001c0002t0067g0138	1	176	0.0057	320	c.330 others(339): Show c.330+45495_330+45496insCGCGGTGGCTCACGCTTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCTGCCTGGGCCACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTATGATG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BRCA2_chr13_32310508_32405268	32348295	T T	TAAAAGTT others(313): Show TAAAAGTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03831.hp2 NA19058.hp1 HG03017.hp1 HG03831.hp2 NA19058.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0010 a0003c0005t0003 a0003c0005t0010	a0003c0005t0003g0031 a0003c0005t0010g0140 a0003c0005t0010g0141 a0003c0005t0003g0031 a0003c0005t0010g0140 a0003c0005t0010g0141	3	398	0.0075	320	c.700 others(339): Show c.7007+1406_7007+1407insTTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTT	BRCA2	ENSG00000139618.18	transcript	ENST00000380152.8	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar

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